Article
RELN rare variants in myoclonus-dystonia.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 2015
Groen Justus L, Ritz Katja, Jalalzadeh Hamid, van der Salm Sandra M A, Jongejan Aldo, Mook Olaf R, Haagmans Martin A, Zwinderman Aeilko H, Motazacker Mahdi M, Hennekam Raoul C, Baas Frank, Tijssen Marina A J
Abstract excerpt
BACKGROUND: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the body. A proportion of M-D cases are caused by mutations in the epsilon-sarcoglycan gene. In remaining M-D patients, no genetic factor has been established, indicating genetic heterogeneity. METHODS: Patients were included in a prospective clinical database...
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